Pseudoautosomal region in schizophrenia: sex concordance of the affected sibpairs and the association study with DNA markers.

To test a hypothesis that the pseudoautosomal region of the sex chromosomes contributes to the pathogenesis of schizophrenia, we carried out the following studies: First, the sex concordant rates of 77 schizophrenic sibpairs were examined. Secondly, 46 schizophrenic patients and 150 healthy controls were tested for association with DXYS17, DXYS20, DXYS28, and MIC2 in the pseudoautosomal region. Sex concordant rates in sibpairs with schizophrenia were not higher than would be expected by chance. No significant associations were found between four DNA markers we tested and schizophrenia. These results did not support the hypothesis; however, linkage disequilibrium can only be detected if the marker and trait loci are located close enough. Linkage analyses in multiplex families need to be carried out before ruling out this region as a location for a gene for schizophrenia.